L129F (p.Leu129Phe) variant of CASK (O14936)
L129F (p.Leu129Phe) in CASK (O14936) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
L129F (p.Leu129Phe) variant details
- p.Leu129Phe
- gnomAD X-41523002-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- CADD 20.40
- Population evidence available
- Structural context available
- Literature evidence available